Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.R197H

SLC16A2

248 papers

RefSeq Summary

This gene encodes an integral membrane protein that functions as a transporter of thyroid hormone. The encoded protein facilitates the cellular importation of thyroxine (T4), triiodothyronine (T3), re...

Pfam Domains

MFS_1aa 99–441UCSCMajor Facilitator Superfamily
MFS_1aa 409–524UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 16 member 2

HGNC Previous Symbols

DXS128; AHDS; MRX22

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_006517.5
p.R197H
c.590G>A
Surrounding Variants
3 papers
NM_006517.5
p.R197S
c.589C>A
1 paper
NM_006517.5
p.Y198F
c.593A>T
2 papers
NM_006517.5
p.S195delFs
c.584delG
1 paper
NM_006517.5
p.S195fs
c.583_584fs
1 paper
NM_006517.5
p.T200N
c.599C>A
1 paper
NM_006517.5
p.S193F
c.578C>T
4 papers
NM_006517.5
p.G202R
c.604G>A
2 papers
NM_006517.5
p.G202R
c.604G>C
1 paper
NM_006517.5
p.G202E
c.605G>A
1 paper
NM_006517.5
p.S192Splc
c.576-1G>C
2 papers
NM_006517.5
p.I203delFs
c.607delA
1 paper
NM_006517.5
p.I203T
c.608T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."